Systematics for types and effects of DNA variations

Research output: Contribution to journalReview article

Abstract

Background: Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results: VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions: DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers.

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Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics

Keywords

  • Annotation, Databases, DNA variations, Mutation, Ontology, Systematics, Variation, Variation ontology, VariO
Original languageEnglish
Article number974
JournalBMC Genomics
Volume19
Issue number1
Publication statusPublished - 2018 Dec 28
Publication categoryResearch
Peer-reviewedYes